Description

tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]

Synonyms

TSC, hamartin, KIAA0243, LAM

Location

Chromosome 9: 132,891,348-132,944,633 reverse strand.

GRCh38:CM000671.2

About this gene

This gene has 8 transcripts (splice variants), 98 orthologues, is a member of 1 Ensembl protein family and is associated with 47 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
TSC1-201ENST00000298552.786041164aaENSP00000298552
 
Protein coding
CCDS6956Q92574 X5D9D2 NM_000368
NM_001162426
NM_001162427
NP_000359
NP_001155898
NP_001155899
TSL:1GENCODE basicAPPRIS P1
TSC1-203ENST00000440111.684631164aaENSP00000394524
 
Protein coding
CCDS6956Q92574 X5D9D2 -TSL:1GENCODE basicAPPRIS P1
TSC1-208ENST00000545250.583101113aaENSP00000444017
 
Protein coding
CCDS55350Q92574 -TSL:5GENCODE basic
TSC1-202ENST00000403810.51507366aaENSP00000386093
 
Protein coding
-Q86WV8 -TSL:1GENCODE basic
TSC1-205ENST00000475903.5820No protein-
 
Processed transcript
---TSL:4
TSC1-206ENST00000490179.2681No protein-
 
Processed transcript
---TSL:3
TSC1-204ENST00000461879.5492No protein-
 
Processed transcript
---TSL:3
TSC1-207ENST00000493467.52219No protein-
 
Retained intron
---TSL:1

Gene-based displays